SMABF1
MCID: SPN400
MIFTS: 21

Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures (SMABF1)

Categories: Bone diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards integrated aliases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

Name: Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 58
Spinal Muscular Atrophy with Congenital Bone Fractures 1 58 76 30 6
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 54 30
Smabf1 58 76
Atrophy, Muscular, Spinal, with Congenital Bone Fractures, Type 1 41
Sma1 with Congenital Bone Fractures 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
spinal muscular atrophy with congenital bone fractures 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

spinal muscular atrophy, type i, with congenital bone fractures:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

UniProtKB/Swiss-Prot : 76 Spinal muscular atrophy with congenital bone fractures 1: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.

MalaCards based summary : Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures, is also known as spinal muscular atrophy with congenital bone fractures 1. An important gene associated with Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include bone and heart, and related phenotypes are hypertelorism and high palate

Description from OMIM: 271225 616866

Related Diseases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Human phenotypes related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

33 (show all 43)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 very rare (1%) HP:0000316
2 high palate 33 very rare (1%) HP:0000218
3 muscle weakness 33 very rare (1%) HP:0001324
4 dysphagia 33 very rare (1%) HP:0002015
5 global developmental delay 33 very rare (1%) HP:0001263
6 patent ductus arteriosus 33 very rare (1%) HP:0001643
7 congestive heart failure 33 very rare (1%) HP:0001635
8 hypohidrosis 33 very rare (1%) HP:0000966
9 cardiomyopathy 33 very rare (1%) HP:0001638
10 arthrogryposis multiplex congenita 33 very rare (1%) HP:0002804
11 neonatal respiratory distress 33 very rare (1%) HP:0002643
12 narrow mouth 33 very rare (1%) HP:0000160
13 areflexia 33 very rare (1%) HP:0001284
14 oligohydramnios 33 very rare (1%) HP:0001562
15 decreased fetal movement 33 very rare (1%) HP:0001558
16 microretrognathia 33 very rare (1%) HP:0000308
17 premature birth 33 very rare (1%) HP:0001622
18 multiple prenatal fractures 33 very rare (1%) HP:0005855
19 severe muscular hypotonia 33 very rare (1%) HP:0006829
20 pulmonary hypoplasia 33 very rare (1%) HP:0002089
21 increased variability in muscle fiber diameter 33 very rare (1%) HP:0003557
22 secundum atrial septal defect 33 very rare (1%) HP:0001684
23 patent foramen ovale 33 very rare (1%) HP:0001655
24 muscle fiber atrophy 33 very rare (1%) HP:0100295
25 pectus excavatum 33 HP:0000767
26 osteopenia 33 HP:0000938
27 flexion contracture 33 HP:0001371
28 decreased muscle mass 33 HP:0003199
29 respiratory distress 33 HP:0002098
30 congenital hip dislocation 33 HP:0001374
31 arachnodactyly 33 HP:0001166
32 generalized hypotonia 33 HP:0001290
33 generalized amyotrophy 33 HP:0003700
34 peripheral axonal neuropathy 33 HP:0003477
35 rocker bottom foot 33 HP:0001838
36 axonal loss 33 HP:0003447
37 generalized edema 33 HP:0007430
38 spinal muscular atrophy 33 HP:0007269
39 hypertrichosis 33 HP:0000998
40 degeneration of anterior horn cells 33 HP:0002398
41 diaphragmatic eventration 33 HP:0009110
42 lack of spontaneous play 33 HP:0000721
43 acute infantile spinal muscular atrophy 33 HP:0007280

Symptoms via clinical synopsis from OMIM:

58
Neuro:
acute infantile spinal muscular atrophy

Skel:
congenital bone fractures

Clinical features from OMIM:

271225 616866

Drugs & Therapeutics for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic Tests for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic tests related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy with Congenital Bone Fractures 1 30 TRIP4
2 Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 30

Anatomical Context for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

42
Bone, Heart

Publications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Articles related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

# Title Authors Year
1
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. ( 26924529 )
2016

Variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP4 NM_016213.4(TRIP4): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs869312827 GRCh37 Chromosome 15, 64698591: 64698591
2 TRIP4 NM_016213.4(TRIP4): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs869312827 GRCh38 Chromosome 15, 64406392: 64406392
3 TRIP4 NM_016213.4(TRIP4): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs761865592 GRCh37 Chromosome 15, 64701816: 64701816
4 TRIP4 NM_016213.4(TRIP4): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs761865592 GRCh38 Chromosome 15, 64409617: 64409617

Expression for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures.

Pathways for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

GO Terms for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Sources for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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